Highest risk Alzheimer's genetic carriers take positive steps after learning risk status

July 16, 2013

People who found out they carried an uncommon genetic risk for Alzheimer's disease did not experience more anxiety, depression or distress than non-carriers, and were more active in efforts to reduce their risk of Alzheimer's disease - by exercising, eating a healthy diet and taking recommended vitamins and medications - report researchers from the Perelman School of Medicine at the University of Pennsylvania today at the 2013 Alzheimer's Association International Conference (AAIC). Researchers note that this study will inform how research studies and clinical practices reveal genetic and other risk factors to people interested in being tested in the future.

"This study informs our understanding of the impact of people finding out their for Alzheimer's in the absence of any treatments to prevent dementia," said lead study author Jason Karlawish, MD, professor of Medicine and Medical Ethics and Health Policy in Penn's Perelman School of Medicine. "We saw that, following their session, people took positive steps to mitigate their Alzheimer's risk, such as following a healthy diet and exercising. They might also be willing to join an Alzheimer's dementia prevention trial."

As part of the NIH-funded REVEAL study led by Robert Green, MD, at Boston's Brigham and Women's Hospital, an analysis of 648 people tested for the Alzheimer's disease genetic risk marker APOe4 was conducted, where participants learned their risk estimate, based on genotype, gender, ethnicity and family history. Only 4 percent of participants (28 people) were in the highest , carrying two copies of APOe4, while 34 percent (221) had a single copy of the gene and 62 percent (399) carried no genetic risk marker.

After a year of following the three groups, there was no inflated perceived risk of getting Alzheimer's disease, nor was there any significant difference between groups for scores on anxiety, depression and test-related distress.

"What is the experience of being an APOE4 homozygote? Findings from the REVEAL Study" by Karlawish et al will be presented on Tuesday, July 16 at 12:00pm ET. The study was supported by grants from the National Institutes of Health (HG002213, HG005092, HG006500 and AG027841.

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